Disease: NEMALINE MYOPATHY 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854380
Disease: NEMALINE MYOPATHY 5
NEMALINE MYOPATHY 5 		0.010 GeneticVariation disease BEFREE A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. 12732643 2003